Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.L222P

PPT1

413 papers

RefSeq Summary

The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl grou...

Pfam Domains

Palm_thioestaa 34–243UCSCPalmitoyl protein thioesterase

Gene Aliases

HGNC Name

palmitoyl-protein thioesterase 1

HGNC Alias Symbols

CLN1; INCL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_000310.4
p.L222P
c.665T>C
Surrounding Variants
1 paper
NM_000310.4
p.L222R
c.665T>G
5 papers
NM_000310.4
p.F225S
c.674T>C
8 papers
NM_000310.4
p.L219Q
c.656T>A
2 papers
NM_000310.4
p.V228G
c.683T>G
1 paper
NM_000310.4
p.K216E
c.646A>G
2 papers
NM_000310.4
p.Y215delFs
c.644delT
1 paper
NM_000310.4
p.F230fs
c.688_689fs
1 paper
NM_000310.4
p.S214A
c.640T>G
1 paper
NM_000310.4
p.F230delFs
c.689delA
2 papers
NM_000310.4
p.N212S
c.635A>G
1 paper
NM_000310.4
p.I211fs
c.631_632fs
1 paper
NM_000310.4
p.G210insFs
c.629_630dupGT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."